Study of the Disease Process of Lymphangioleiomyomatosis

Recruiting

• Conditions: Pneumothorax; Lymphangioleiomyomatosis; Lung Disease; Tuberous Sclerosis
• Interventions: Device: Toshibia Aquilion One CT

• Registration Number: NCT00001465
• Lead Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary

Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.

This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy.

Researchers intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.

Detailed Description

Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Most of them are females of childbearing age. Currently, there is no proven effective therapy and the prognosis is variable. This study is designed to (a) define the clinical course of the disease and (b) elucidate the pathogenesis of the disease at the cellular and molecular levels, in order to develop more effective therapy. To accomplish this, we intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.

Study Timeline

• Study Start: 1995-12-18
• Study First Submitted: 1999-11-03
• Study First Submitted QC: 1999-11-03
• Study First Posted: 1999-11-04
• Status Verified: 2025-04-30
• Last Update Submitted: 2025-05-15
• Last Update Posted: 2025-05-16

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 2000

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
LAM	Toshibia Aquilion One CT	Patients with tissue diagnosis of LAM may be admitted for evaluation every six months, or as deemed necessary for research

Primary Outcome Measures

Name	Time	Method
Define the clinical course of the disease LAM andelucidate the pathogenesis of LAM at cellular and molecular levels	on going	To define the molecular basis of the remarkable proliferation of immature appearing smooth muscle cells, which is the cause of many of the clinical manifestations, and perhaps thereby to improve our understanding of the mechanism of smooth muscle cell proliferation in other diseases, e.g., interstitial lung diseases, asthma, atherosclerosis, hypertension, and post-angioplastic coronary restenosis. To assess the contribution of proteins and genetic factors to cyst formation, airway obstruction, and clinical course. To evaluate the role of TSC genes in the pathogenesis of LAM.

Trial Locations

Locations (1)

National Institutes of Health Clinical Center; 🇺🇸 Bethesda, Maryland, United States